Genome Sequencing helps diagnosing rare disorder

Genome Sequencing helps diagnosing rare disorder
Noah and Beery were diagnosed with cerebral palsy nearly 13 years ago. At the age of 5 yrs they were diagnosed as Dopa-responsive Dystonia (DRD). It is a complex movement disorder involving the loss of the neurotransmitter dopamine.
The muscles of people with dystonia contract and spasm involuntarily. The twins were given L-dopa, which substitutes for the neurotransmitter dopamine they lacked, and they responded quickly. But there were still some lingering symptoms.
6 years ago, Alexis developed a cough that became increasingly debilitation and a massive breathing problem developed.
As luck would have it that the twins’ father had recently taken a job as chief information officer for the Life Technologies, maker of gene sequencing machines.The genomes sequencing of the children were done. When the researchers analyzed raw DNA sequence data from the twins’ genome, they were surprised to find no mutations in the two genes commonly mutated in DRD. Instead the team discovered that the twins carried a mutated gene related to serotonin production that made them deficient in both dopamine and serotonin. Serotonin is another neurotransmitter.
The twins were given a serotonin-inducing supplement called 5-HTP to their Dopamine regimen and this improved their symptoms dramatically within a few weeks.Because of the genome sequencing, and Alexis taking this new amino acid, is able to run on tracks and has been winning races. Seeing them now one would say that there is nothing wrong with them!
The cost of this genome sequencing is not within reach of most of our population. At present it costs $ 10,000 to $ 20,000 per patient. But, companies such as Illumina, Life Technologies Corp and Roche Holding are working to bring down the cost. It is expected that the cost of genome sequencing is going to drop very fast in near future and it is hoped that in very near future the cost may come down within reach of very many patients.

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About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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